Is There a Genetic Test for Heart Disease or Heart Conditions?


Q.: Is there a genetic test for heart disease or heart conditions?

A.: There are some types of cardiovascular disease in which genetic testing is discussed, including some types of cardiomyopathies, connective tissue disorders and genetic forms of arrhythmias.

One of the most common and most important genetically-linked heart conditions is a disorder known as familial hyperlipidemia or FH. This is an inherited disorder where you have a defect in the receptors in the liver that actually pull the bad cholesterol, or LDL, out of the blood.

People with FH can feel perfectly normal. However, in childhood or as teens, when you measure their blood cholesterol levels, their LDL is very high. We treat these people at a relatively young age. So if you have a very strong family history of heart disease, you might want to have your cholesterol checked at a younger age.

If you have suspected FH, we will occasionally perform a genetics test to fully understand the problem. This may help to determine whether you are likely to pass the disease to your offspring. If you have a genetically-mediated cholesterol elevation or FH, then you — and your children — can receive appropriate medical advice and counseling on managing this condition.

— Cardiologist Steven Nissen, MD, Chairman of the Department of Cardiovascular Medicine at Cleveland Clinic